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Case report: Infantile generalized pustular psoriasis with IL36RN and CARD14 gene mutations
Xinyun Tong1,2,3, Yang Li1,2,3, Xianfa Tang1,2,3
1Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei, China.
Insights
Infantile pustular psoriasis (IPP), a rare genetic skin condition, was diagnosed in an infant with coexistent IL36RN and CARD14 mutations. Traditional treatments showed significant improvement, highlighting potential for targeted therapies.
Area of Science:
- Genetics
- Dermatology
- Immunology
Background:
- Infantile pustular psoriasis (IPP) is an extremely rare genetic skin disorder.
- Mutations in IL36RN, CARD14, and AP1S1 genes are implicated in IPP pathogenesis.
- IPP often presents without prior psoriasis vulgaris or family history.
Observation:
- A 6-month-old infant presented with symptoms diagnosed as IPP through clinical examinations.
- Genetic analysis revealed coexistent mutations in IL36RN and CARD14.
- The infant was treated with conventional oral and topical medications, avoiding acitretin due to potential side effects.
Findings:
- The patient exhibited significant improvement in skin lesions and inflammation following treatment.
- The coexistent IL36RN and CARD14 mutations provide a genetic basis for the IPP diagnosis.
- Traditional therapies demonstrated efficacy in managing IPP symptoms.
Implications:
- This case reinforces the genetic underpinnings of IPP, specifically involving IL36RN and CARD14.
- Conventional treatments can be effective for IPP, offering an alternative to systemic retinoids.
- Targeting IL-36 pathways with biological agents presents a promising future therapeutic strategy for IL36RN-deficient skin diseases like IPP.
Abstract:
Infantile pustular psoriasis (IPP) is an extremely rare skin disease associated with genetic factors. Gene mutations of IL36RN (interleukin-36 receptor antagonist), CARD14 (caspase recruitment family member 14), and AP1S1 (the σ1C subunit of the adaptor protein complex 1) had been identified to be involved in the pathogenesis of IPP. IPP usually develops with no preceding psoriasis vulgaris (PV) or familial history. Here, we report a case of a 6-month-old infant and make the diagnosis of IPP by a series of examinations; subsequently, by detecting coexistent mutations of IL36RN and CARD14, the diagnosis is intensified from a genetic point of view. We treated the child with traditional oral and topical drugs regardless of the commonly used acitretin considering its potential side effects, such as skeletal toxicity, and the lesions got conspicuous improvement with much reduction of inflammation. Owing to the genetic mutation of IL-36, there had been reported cases focusing on anti-IL36 biological agents in the treatment of IPP, and it could be a new weapon to treat and improve such IL-36RN-deficient skin diseases.
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